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Biomedicines
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Molecular Research in Ocular Pathology
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Molecular Research in Ocular Pathology

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 30 September 2026 | Viewed by 10798

Editors

Dr. Sorin Lucian Bolintineanu

E-Mail Website
Guest Editor
Department of Anatomy and Embryology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
Interests: orbital anatomy; retinal vascular diseases; optic nerve morphology; radiology; OCT
Dr. Laura Andreea Ghenciu

E-Mail Website
Guest Editor
1 Department of Functional Sciences, Victor Babes University of Medicine and Pharmacy, 300041 Timisoara, Romania 2 Center for Translational Research and Systems Medicine, “Victor Babes” University of Medicine and Pharmacy Timisoara, Eftimie Murgu Square No. 2, 300041 Timisoara, Romania
Interests: OCT; diabetic retinopathy; thyroid eye disease; ocular neuroprotection; clinical ophtalmology

Special Issue Information

Dear Colleagues,

This Special Issue focuses on the molecular mechanisms underlying ocular diseases and their clinical implications. The aim is to bridge the gap between basic molecular research and clinical applications, providing insights into how molecular pathways influence ocular pathophysiology and how they can be targeted for diagnostic, prognostic, and therapeutic strategies.

Ocular diseases, including diabetic retinopathy, glaucoma, age-related macular degeneration, thyroid eye disease, uveitis, and corneal dystrophies, often involve complex molecular alterations. These changes involve inflammatory cascades, oxidative stress, angiogenesis, neurodegeneration, and immune dysregulation, which contribute to disease onset and progression. Advances in molecular techniques, such as transcriptomics, proteomics, and metabolomics, have discovered key pathways and biomarkers, offering opportunities for precision medicine in ophthalmology.

For this Special Issue, we welcome original research, reviews, and clinical studies that explore molecular mechanisms, identify novel biomarkers, and investigate cutting-edge therapies for ocular diseases. Additionally, we welcome articles addressing the application of advanced paraclinical investigations and imaging modalities in the diagnosis and management of ocular diseases. Topics of interest include, but are not limited to, the following:

  • Molecular signaling pathways in ocular diseases.
  • The role of biomarkers in early diagnosis and disease monitoring.
  • Insights into gene therapy, cell therapy, and molecular-targeted treatments.
  • The application of imaging technologies in understanding molecular pathology.

This Special Issue seeks to advance the understanding of ocular disease at a molecular level and foster innovative approaches to improving patient outcomes. Researchers and clinicians are encouraged to contribute to this growing field at the intersection of molecular biology and ocular pathology.

Dr. Sorin Lucian Bolintineanu
Dr. Laura Andreea Ghenciu
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • molecular pathology
  • ocular diseases
  • biomarkers
  • diabetic retinopathy
  • glaucoma
  • age-related macular degeneration
  • thyroid eye disease
  • inflammatory pathways
  • oxidative stress
  • angiogenesis
  • neurodegeneration
  • gene therapy
  • cell therapy
  • precision medicine
  • ocular imaging

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (5 papers)

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Research

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16 pages, 4501 KB  
Article
Metagenomic Profiling of the Gut Microbiome in Age-Related Macular Degeneration—A Pilot Study
by Andreea-Talida Tîrziu, Mirabela Romanescu, Paula Diana Ciordas, Nadina Mercea, Mihnea Munteanu, Florin George Horhat, Aimee Rodica Chis and Maria-Alexandra Preda
Biomedicines 2026, 14(6), 1290; https://doi.org/10.3390/biomedicines14061290 - 5 Jun 2026
Viewed by 608
Abstract
Background/Objectives: Age-related macular degeneration (AMD) is a multifactorial retinal disease involving inflammatory, metabolic, and genetic factors. Increasing evidence suggests that the gut microbiome may contribute to systemic pathways involved in retinal homeostasis. This exploratory pilot study investigated gut microbiome alterations in AMD patients [...] Read more.
Background/Objectives: Age-related macular degeneration (AMD) is a multifactorial retinal disease involving inflammatory, metabolic, and genetic factors. Increasing evidence suggests that the gut microbiome may contribute to systemic pathways involved in retinal homeostasis. This exploratory pilot study investigated gut microbiome alterations in AMD patients and controls using long-read whole-genome sequencing. Methods: Bacterial DNA was extracted from fecal samples and analyzed using Oxford Nanopore sequencing, followed by taxonomic profiling, alpha and beta diversity analyses, and differential abundance testing. Results: AMD patients showed significantly reduced microbial diversity, reflected by lower richness, Shannon and Simpson indices. Species-level beta diversity analyses revealed significant differences in microbial community composition, particularly with Bray-Curtis metrics, alongside increased inter-individual microbial heterogeneity in AMD samples. Differential abundance analyses identified the depletion of several potentially beneficial commensal taxa, including Faecalibacterium prausnitzii and Parabacteriodes distasonis, whereas Staphylococcus aureus was enriched in AMD patients. Comparisons between wet and dry subtypes showed no significant differences in alpha or beta diversity. Conclusions: Overall, the findings support the presence of gut microbial dysbiosis in AMD characterized by reduced diversity, abundance-driven community shifts, and increased microbiome heterogeneity. Given the small cohort size, cross-sectional design and lack of functional analysis, these results should be considered preliminary and hypothesis-generating. Full article
(This article belongs to the Special Issue Molecular Research in Ocular Pathology)
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20 pages, 6894 KB  
Article
Insulin and Insulin-like Growth Factor 1 Signaling as a Modulator of MYC Expression in the Meibomian Gland
by Cynthia Verling, Autumn Berlied and Cornelia Peterson
Biomedicines 2026, 14(3), 578; https://doi.org/10.3390/biomedicines14030578 - 4 Mar 2026
Viewed by 794
Abstract
Background/Objectives: Sebaceous carcinomas (SebCAs) of the ocular adnexa, primarily arising from the Meibomian glands, are locally aggressive eyelid tumors with metastatic potential. Upregulation of the oncogene MYC has been demonstrated in SebCA, suggesting a role in tumor initiation and progression. In other [...] Read more.
Background/Objectives: Sebaceous carcinomas (SebCAs) of the ocular adnexa, primarily arising from the Meibomian glands, are locally aggressive eyelid tumors with metastatic potential. Upregulation of the oncogene MYC has been demonstrated in SebCA, suggesting a role in tumor initiation and progression. In other epithelial tumors, the insulin and insulin-like growth factor (IGF) signaling (IIS) pathway has been implicated in stem cell renewal via MYC activation and stabilization. This study aimed to evaluate the effects of pharmacologic and genetic modulation of the IIS pathway on MYC expression in human Meibomian gland epithelial cells (HMGECs) and meibocytes of adult C57B6 mice. Methods: HMGECs were incubated with either IIS activators or inhibitors or were subject to transfection with either an IGF1R plasmid or siRNA before assessments of viability, proliferation, immunostaining, and MYC quantification were performed. Murine eyelids were treated topically with small-molecule IIS modulators prior to tissue harvest for histology, immunolabeling, and qPCR. Results: HMGECs treated with IIS activators demonstrated downregulated IGF1R and upregulated MYC expression, increased viability and proliferation, and reduced autophagy, while treatment with inhibitors yielded the inverse effects. Incubation with the selective insulin receptor agonist, demethylasterriquinone B1, yielded the most phenotypic variability. IGF1R-overexpressing HMGECs exhibited relative upregulation of both Akt and MYC. Murine eyelids treated with an IIS agonist demonstrated a more mesenchymal phenotype and significantly induced MYC expression. Conclusions: Collectively, these results suggest that the IIS pathway may represent a novel approach for regulating high MYC expression in SebCA. Full article
(This article belongs to the Special Issue Molecular Research in Ocular Pathology)
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Graphical abstract

17 pages, 413 KB  
Article
Axial Length to Corneal Radius of Curvature Ratio (AL/CR) and Refractive Errors in a Single Center Romanian Population
by Maria-Cristina Marinescu, Dana-Margareta-Cornelia Dascalescu, Dan Stanila, Sanda Jurja, Mihaela-Monica Constantin, Valeria Coviltir, Cristina Alexandrescu, Radu-Constantin Ciuluvica and Miruna-Gabriela Burcel
Biomedicines 2025, 13(11), 2742; https://doi.org/10.3390/biomedicines13112742 - 10 Nov 2025
Viewed by 1924
Abstract
Background: Refractive errors are a common ophthalmological complaint, with a significant potential on the quality of life of our patients—myopia in particular has a growing incidence worldwide. Recent research focused on the ratio between the axial length of the eye (AL) and [...] Read more.
Background: Refractive errors are a common ophthalmological complaint, with a significant potential on the quality of life of our patients—myopia in particular has a growing incidence worldwide. Recent research focused on the ratio between the axial length of the eye (AL) and the corneal radius of curvature (CR), as it had proven valuable in refractive error diagnosis, and risk of progression and of complications. The objective of the study is to compare young emmetropic, hyperopic, and myopic eyes in terms of corneal biomechanics and ocular biometry, focusing on the AL/CR ratio. Methods: This cross-sectional study included 144 myopic eyes, 92 emmetropic eyes, and 47 hyperopic eyes. Measurements included cycloplegic autorefractometry (SE—spherical equivalent), Ocular Response Analyzer (CH—corneal hysteresis, CRF—corneal resistance factor), Aladdin biometry (AL, CR, ACD—anterior chamber depth, CCT—central corneal thickness, AL/CR ratio). Results: ACD, AL, and AL/CR were significantly higher and CCT, SE, CH, and CRF were lower in myopia. The AL/CR ratio correlated positively with AL and ACD and negatively with SE and CR in myopes and hyperopes, and correlated positively with AL and negatively with SE, CH, CRF, and CCT in emmetropes. Conclusions: The AL/CR ratio is significantly higher in myopes and significantly lower in hyperopes, compared to emmetropes, with differences also being in biomechanical properties (CH, CRF) and morphological ones (AL, CCT, ACD). This suggests the AL/CR ratio as a future potential biomarker for refractive errors, particularly for their risk of progression and complications. Full article
(This article belongs to the Special Issue Molecular Research in Ocular Pathology)
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Review

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18 pages, 707 KB  
Review
Corneal Endothelial Cell Loss Following Cataract Surgery in Patients with Type 2 Diabetes Mellitus: A Comprehensive Review
by Mădălina-Casiana Salavat, Mihnea Munteanu, Vlad Chercotă, Adina Iuliana Ardelean, Amanda Schuldez, Valentin Dinu and Ovidiu Borugă
Biomedicines 2025, 13(7), 1726; https://doi.org/10.3390/biomedicines13071726 - 15 Jul 2025
Cited by 4 | Viewed by 2685
Abstract
Cataract surgery, while commonly considered a routine, highly effective, and generally low-risk ophthalmic procedure, has been associated with corneal endothelial cell loss (ECL), a phenomenon particularly pronounced in patients with type 2 diabetes mellitus (DM2). This increased susceptibility in diabetic patients is often [...] Read more.
Cataract surgery, while commonly considered a routine, highly effective, and generally low-risk ophthalmic procedure, has been associated with corneal endothelial cell loss (ECL), a phenomenon particularly pronounced in patients with type 2 diabetes mellitus (DM2). This increased susceptibility in diabetic patients is often attributed to pre-existing corneal abnormalities, including compromised structural integrity and reduced endothelial cell density. Additionally, metabolic stress factors inherent to diabetes, such as chronic hyperglycemia and associated oxidative stress, further exacerbate endothelial vulnerability. Consequently, diabetic patients may experience significantly greater endothelial cell loss during and after cataract surgery, necessitating targeted surgical strategies and careful perioperative management to preserve corneal health and visual outcomes. This paper aims to conduct an extensive and detailed review of the existing scientific literature to thoroughly investigate the relationship between ECL and cataract surgery in patients diagnosed with DM2. This study conducts a critical evaluation to elucidate the mechanisms contributing to high endothelial vulnerability in individuals with diabetes. It systematically compares the rates of ECL observed in diabetic and non-diabetic populations undergoing cataract surgery, examines molecular alterations following the procedure in patients with and without DM2, identifies key risk factors influencing surgical outcomes, evaluates the impact of various surgical techniques, discusses preventative measures, and examines the long-term consequences of ECL in this specific population. Furthermore, this review analyzes the existing research to identify gaps in knowledge and suggest potential directions for future investigations. Full article
(This article belongs to the Special Issue Molecular Research in Ocular Pathology)
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Other

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19 pages, 1241 KB  
Systematic Review
Therapeutic Potential of Rho Kinase Inhibitors in Corneal Disease: A Systematic Review of Preclinical and Clinical Studies
by Laura Andreea Ghenciu, Diana Andrei, Claudia Borza, Roxana Iacob, Emil Robert Stoicescu, Sorin Lucian Bolintineanu, Daniela Iacob and Ovidiu Alin Haţegan
Biomedicines 2025, 13(7), 1602; https://doi.org/10.3390/biomedicines13071602 - 30 Jun 2025
Cited by 5 | Viewed by 3907
Abstract
Background/Objectives: Rho-associated coiled-coil-containing protein kinase inhibitors (ROCKis) have now become known as modulators of corneal endothelial wound repair and cell survival. However, evidence remains fragmented across laboratory and clinical reports. We performed a systematic review to synthesize preclinical and clinical data on ROCKis [...] Read more.
Background/Objectives: Rho-associated coiled-coil-containing protein kinase inhibitors (ROCKis) have now become known as modulators of corneal endothelial wound repair and cell survival. However, evidence remains fragmented across laboratory and clinical reports. We performed a systematic review to synthesize preclinical and clinical data on ROCKis in corneal disease, assess their efficacy and safety, and identify research gaps. Methods: We searched PubMed, Web of Science, Scopus, and Google Scholar (until May 2025) for English-language original studies evaluating ROCKis in corneal models or patients. Inclusion criteria encompassed in vitro, ex vivo, in vivo, and clinical trials reporting functional outcomes (endothelial cell density, wound closure, visual acuity). Results: Thirty-one studies met criteria: 14 preclinical studies and 17 clinical studies. Preclinical models (rabbit, porcine, human explants) uniformly showed ROCKis (Y-27632, Ripasudil, Netarsudil, H-1152) accelerate corneal endothelial cell proliferation, migration, and restoration of a hexagonal monolayer with improved barrier and pump function over days to weeks. In 17 clinical investigations, topical Ripasudil or Netarsudil and cultured cell injections achieved significant corneal thinning, endothelial cell density and central corneal thickness changes, and visual acuity improvements (≥2 lines) with minimal adverse events. Overall bias was moderate in non-randomized studies and low in the RCTs. Conclusions: ROCKis demonstrate consistent pro-regenerative effects on corneal endothelium in multiple models and show promising clinical efficacy in Fuchs endothelial dystrophy and pseudophakic endothelial failure. Future work should explore novel delivery systems and larger controlled trials to optimize dosing, safety, and long-term outcomes. Full article
(This article belongs to the Special Issue Molecular Research in Ocular Pathology)
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